Nephronophthisis 16

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP16
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615382
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 families - PMID: 23793029 [IBIS]
Inheritance: Autosomal recessive
- PMID: 23793029 [IBIS]
Age of onset: Childhood
- PMID: 23793029 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive medullary cystic kidney disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 23793029 IBIS 44 / 7739
2
(HPO:0001396) Cholestasis 23793029 IBIS 136 / 7739
3
(HPO:0001395) Hepatic fibrosis 23793029 IBIS 67 / 7739
4
(HPO:0001650) Aortic valve stenosis rare [HPO:skoehler] 23793029 IBIS 49 / 7739
5
(HPO:0001639) Hypertrophic cardiomyopathy rare [HPO:skoehler] 23793029 IBIS 137 / 7739
6
(HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 23793029 IBIS 228 / 7739
7
(HPO:0004415) Pulmonary artery stenosis 23793029 IBIS 25 / 7739
8
(HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 23793029 IBIS 89 / 7739
9
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
10
(HPO:0001969) Tubulointerstitial abnormality 19118152 IBIS 15 / 7739
11
(HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
12
(HPO:0000090) Nephronophthisis 23793029 IBIS 42 / 7739
13
(HPO:0000105) Enlarged kidneys 23793029 IBIS 30 / 7739
14
(HPO:0000113) Polycystic kidney dysplasia 23793029 IBIS 75 / 7739
15
(HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152 IBIS 78 / 7739
16
(HPO:0000083) Renal insufficiency 23793029 IBIS 232 / 7739

Associated genes:

ANKS6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hoff et al. (2013) reported 8 patients from 6 unrelated families with nephronophthisis. Affected individuals in 5 families had infantile onset of progressive polycystic kidney disease leading to renal failure, whereas those in 1 family showed juvenile onset ...
Molecular genetics OMIM In affected members of 6 unrelated families with nephronophthisis-16, Hoff et al. (2013) identified 6 different homozygous mutations in the ANKS6 gene (see, e.g., 615370.0001-615370.0005). There were 2 truncating mutations, 2 splice site mutations, and 2 missense mutations. ...